ClinVar Miner

Submissions for variant NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)

gnomAD frequency: 0.00001  dbSNP: rs916775904
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991202 SCV001142579 uncertain significance Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2018-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266254 SCV001444426 uncertain significance Inborn genetic diseases 2019-07-19 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002279966 SCV002568819 likely pathogenic not provided criteria provided, single submitter clinical testing
Baylor Genetics RCV000991202 SCV003836217 uncertain significance Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2022-03-21 criteria provided, single submitter clinical testing
OMIM RCV000991202 SCV002498727 pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2022-04-07 no assertion criteria provided literature only

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